Canonical Allele Identifier: CA357854638

Gene: CFI

Linked Data

• ClinVar Variation Id: 2849215
• ClinVar RCV Id: RCV003695612
• gnomAD v4: 4-109741062-G-A
• COSMIC: COSM3599038
• MyVariant Identifiers: chr4:g.110662218G>A (hg19) ; chr4:g.109741062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741062G>A , CM000666.2:g.109741062G>A	GRCh38
NC_000004.11:g.110662218G>A , CM000666.1:g.110662218G>A	GRCh37
NC_000004.10:g.110881667G>A	NCBI36
NG_007569.1:g.65924C>T , LRG_48:g.65924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1429C>T
ENST00000695845.1:n.1712+1429C>T
ENST00000695846.1:n.1607C>T
ENST00000394634.7:c.1583C>T MANE Select	ENSP00000378130.2:p.Pro528Leu
ENST00000394635.8:c.1607C>T	ENSP00000378131.3:p.Pro536Leu
ENST00000645635.1:c.1534+1429C>T	ENSP00000493607.1:n.1534+1429C>T
ENST00000394634.6:c.1583C>T	ENSP00000378130.2:p.Pro528Leu
ENST00000394635.7:c.1607C>T	ENSP00000378131.3:p.Pro536Leu
ENST00000504853.3:n.2000C>T
ENST00000512148.5:c.1562C>T	ENSP00000427438.1:p.Pro521Leu
ENST00000618244.4:c.1045-257C>T	ENSP00000483416.1:n.1045-257C>T
NM_000204.3:c.1583C>T , LRG_48t1:c.1583C>T	NP_000195.2:p.Pro528Leu
XM_005262975.1:c.1607C>T	XP_005263032.1:p.Pro536Leu
XM_005262976.1:c.1562C>T	XP_005263033.1:p.Pro521Leu
XM_006714209.1:c.1604C>T	XP_006714272.1:p.Pro535Leu
XM_011531920.1:c.1558+1429C>T	XP_011530222.1:n.1558+1429C>T
NM_000204.4:c.1583C>T	NP_000195.2:p.Pro528Leu
NM_001318057.1:c.1607C>T	NP_001304986.1:p.Pro536Leu
NM_001331035.1:c.1562C>T	NP_001317964.1:p.Pro521Leu
XM_011531920.2:c.1558+1429C>T	XP_011530222.1:n.1558+1429C>T
XM_017008164.2:c.1534+1429C>T	XP_016863653.1:n.1534+1429C>T
XM_017008165.2:c.1513+1429C>T	XP_016863654.1:n.1513+1429C>T
XM_017008166.2:c.1534+1429C>T	XP_016863655.1:n.1534+1429C>T
NM_001318057.2:c.1607C>T	NP_001304986.2:p.Pro536Leu
NM_001331035.2:c.1562C>T	NP_001317964.1:p.Pro521Leu
NM_001375278.1:c.1558+1429C>T	NP_001362207.1:n.1558+1429C>T
NM_001375279.1:c.1534+1429C>T	NP_001362208.1:n.1534+1429C>T
NM_001375280.1:c.1513+1429C>T	NP_001362209.1:n.1513+1429C>T
NM_001375281.1:c.1534+1429C>T	NP_001362210.1:n.1534+1429C>T
NM_001375282.1:c.1513+1429C>T	NP_001362211.1:n.1513+1429C>T
NM_001375283.1:c.1526C>T	NP_001362212.1:p.Pro509Leu
NM_001375284.1:c.974C>T	NP_001362213.1:p.Pro325Leu
NR_164671.1:n.1330C>T
NR_164672.1:n.1633C>T
NR_164673.1:n.1607C>T
NM_000204.5:c.1583C>T MANE Select	NP_000195.3:p.Pro528Leu